Canonical Allele Identifier: CA405681467

Gene: RYR1

Linked Data

• dbSNP Id: rs1239965738
• gnomAD v2: 19-39062880-T-G
• gnomAD v4: 19-38572240-T-G
• MyVariant Identifiers: chr19:g.39062880T>G (hg19) ; chr19:g.38572240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572240T>G , CM000681.2:g.38572240T>G	GRCh38
NC_000019.9:g.39062880T>G , CM000681.1:g.39062880T>G	GRCh37
NC_000019.8:g.43754720T>G	NCBI36
NG_008866.1:g.143541T>G , LRG_766:g.143541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.904T>G
ENST00000688602.1:c.2301T>G
ENST00000689936.1:c.2273T>G
ENST00000359596.8:c.13968T>G MANE Select	ENSP00000352608.2:p.Phe4656Leu
ENST00000355481.8:c.13953T>G	ENSP00000347667.3:p.Phe4651Leu
ENST00000359596.7:c.13968T>G	ENSP00000352608.2:p.Phe4656Leu
ENST00000360985.7:c.13950T>G	ENSP00000354254.4:p.Phe4650Leu
ENST00000593677.1:c.428T>G
NM_000540.2:c.13968T>G , LRG_766t1:c.13968T>G	NP_000531.2:p.Phe4656Leu
NM_001042723.1:c.13953T>G	NP_001036188.1:p.Phe4651Leu
XM_006723317.1:c.13950T>G	XP_006723380.1:p.Phe4650Leu
XM_006723319.1:c.13935T>G	XP_006723382.1:p.Phe4645Leu
XM_011527204.1:c.13965T>G	XP_011525506.1:p.Phe4655Leu
XM_011527205.1:c.13881T>G	XP_011525507.1:p.Phe4627Leu
XM_006723317.2:c.13950T>G	XP_006723380.1:p.Phe4650Leu
XM_006723319.2:c.13935T>G	XP_006723382.1:p.Phe4645Leu
XM_011527205.2:c.13881T>G	XP_011525507.1:p.Phe4627Leu
NM_000540.3:c.13968T>G MANE Select	NP_000531.2:p.Phe4656Leu
NM_001042723.2:c.13953T>G	NP_001036188.1:p.Phe4651Leu